Variant report

Variant	nsv891184
Chromosome Location	chr8:91114698-91222654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:148)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:148 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:91193596..91196582-chr8:91200011..91201961,3	K562	blood:
2	chr8:91180601..91182889-chr8:91210829..91212948,2	K562	blood:
3	chr8:91176914..91178549-chr8:91234676..91237074,2	K562	blood:
4	chr8:91199087..91202530-chr8:91204069..91207445,5	K562	blood:
5	chr8:91148105..91150746-chr8:91155344..91157015,2	K562	blood:
6	chr8:91180978..91183657-chr8:91197108..91199909,3	K562	blood:
7	chr8:91177720..91183484-chr8:91189779..91192790,4	K562	blood:
8	chr8:91148105..91150746-chr8:91155344..91157015,2	K562	blood:
9	chr8:91177720..91183484-chr8:91189779..91192790,4	K562	blood:
10	chr8:91126270..91128899-chr8:91135979..91138410,2	K562	blood:
11	chr8:91204870..91208091-chr8:91210126..91212391,3	K562	blood:
12	chr8:91207463..91209619-chr8:91232587..91235024,2	K562	blood:
13	chr8:91180613..91183439-chr8:91193363..91195732,2	K562	blood:
14	chr8:91207984..91210064-chr8:92047813..92050741,2	K562	blood:
15	chr8:91200381..91201934-chr8:91204615..91207445,3	K562	blood:
16	chr8:91196434..91198632-chr8:91204961..91206870,2	K562	blood:
17	chr8:91186436..91188660-chr8:91289229..91291075,2	K562	blood:
18	chr8:91134530..91136835-chr8:91178960..91180753,2	K562	blood:
19	chr8:91195100..91196918-chr8:91207528..91209221,2	K562	blood:
20	chr4:6564574..6566094-chr8:91155316..91156835,2	K562	blood:
21	chr8:91210550..91212657-chr8:91237751..91239928,2	K562	blood:
22	chr8:91184470..91187262-chr8:91242748..91244864,2	K562	blood:
23	chr8:91177407..91179281-chr8:91196128..91199121,2	MCF-7	breast:
24	chr8:91190260..91192251-chr8:91205033..91207499,2	K562	blood:
25	chr8:91166036..91168487-chr8:91169692..91172196,2	MCF-7	breast:
26	chr8:91190260..91192251-chr8:91205033..91207499,2	K562	blood:
27	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
28	chr8:91151874..91154123-chr8:91154645..91156445,2	K562	blood:
29	chr8:91013637..91015167-chr8:91180371..91182546,2	K562	blood:
30	chr8:91209392..91211904-chr8:91213092..91216334,3	K562	blood:
31	chr8:91204870..91208091-chr8:91210126..91212391,3	K562	blood:
32	chr8:91180601..91182889-chr8:91210829..91212948,2	K562	blood:
33	chr8:91139396..91140972-chr8:91161545..91163760,2	K562	blood:
34	chr8:91124236..91126354-chr8:91127708..91130462,3	K562	blood:
35	chr8:91177198..91178801-chr8:91185940..91187719,2	MCF-7	breast:
36	chr11:62608628..62609148-chr8:91155315..91155836,4	NB4	blood:
37	chr8:91185841..91188123-chr8:91204110..91206951,2	MCF-7	breast:
38	chr8:91208757..91210892-chr8:91218226..91220582,2	K562	blood:
39	chr3:73158464..73161607-chr8:91155315..91156835,5	K562	blood:
40	chr8:91181078..91183426-chr8:91231562..91234287,2	K562	blood:
41	chr17:41463347..41467815-chr8:91153835..91156835,9	K562	blood:
42	chr8:91155035..91157497-chr8:91163156..91166027,2	K562	blood:
43	chr3:73159943..73160600-chr8:91154835..91155836,3	HCT-116	colon:
44	chr8:91208689..91211552-chr8:91212511..91216609,5	K562	blood:
45	chr3:73159863..73160591-chr8:91155335..91155835,3	MCF-7	breast:
46	chr8:91152701..91155166-chr8:91157223..91159554,2	K562	blood:
47	chr8:91014065..91015805-chr8:91204916..91207576,2	MCF-7	breast:
48	chr8:91183433..91185602-chr8:91248218..91250005,2	K562	blood:
49	chr8:91204703..91206737-chr8:91244479..91246995,2	K562	blood:
50	chr8:91166036..91168487-chr8:91169692..91172196,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153187	chromatin interactions
ENSG00000253394	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000104312	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000074211	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 2975 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2975 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548611481	chr8:91121812-91121813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73694310	chr8:91121843-91121844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35248040	chr8:91121870-91121871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112546786	chr8:91121877-91121878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530930870	chr8:91121879-91121880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181355087	chr8:91121916-91121917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373441875	chr8:91121939-91121940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570984923	chr8:91122035-91122036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77171179	chr8:91122054-91122055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571001210	chr8:91122074-91122075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376851933	chr8:91122094-91122095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145554175	chr8:91122099-91122100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186301642	chr8:91122100-91122101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547124314	chr8:91122103-91122104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191613591	chr8:91122136-91122137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28380191	chr8:91122146-91122147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs376501277	chr8:91122177-91122178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199799462	chr8:91122194-91122195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556706291	chr8:91122237-91122238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575267122	chr8:91122273-91122274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375833011	chr8:91122372-91122373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535871841	chr8:91122412-91122413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545616792	chr8:91122428-91122429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557909839	chr8:91122486-91122487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573118327	chr8:91122509-91122510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140358520	chr8:91122512-91122513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561920822	chr8:91122531-91122532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557106324	chr8:91122533-91122534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145523158	chr8:91122537-91122538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116121122	chr8:91122550-91122551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563547630	chr8:91122679-91122680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575480982	chr8:91122764-91122765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373565250	chr8:91122783-91122784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556400262	chr8:91122853-91122854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76606855	chr8:91122854-91122855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12543449	chr8:91122855-91122856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs377630341	chr8:91122901-91122902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531715286	chr8:91122956-91122957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571016126	chr8:91122969-91122970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528622421	chr8:91123005-91123006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557930109	chr8:91123053-91123054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146523159	chr8:91123081-91123082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574808370	chr8:91123099-91123100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370724755	chr8:91123141-91123142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11778036	chr8:91123187-91123188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112558139	chr8:91123214-91123215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535764439	chr8:91123263-91123264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556903549	chr8:91123264-91123265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35923411	chr8:91123282-91123283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182142378	chr8:91123408-91123409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91121800-91122000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:91121800-91122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:91121800-91122600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:91122000-91122400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:91122000-91122400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:91122200-91123400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:91122200-91123800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:91122400-91123600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:91122600-91128200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:91123400-91124400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:91123600-91124200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:91123600-91124600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:91123600-91124600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:91123800-91124600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:91124200-91124600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:91124200-91126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:91124400-91127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:91124600-91124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:91124600-91125000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:91124600-91127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:91124600-91128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:91124800-91128200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:91126800-91127000	Enhancers	Esophagus	oesophagus
24	chr8:91126800-91127000	ZNF genes & repeats	Pancreas	Pancrea
25	chr8:91126800-91127200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:91127200-91130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:91127400-91127600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:91127600-91128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:91127600-91128000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:91127600-91128400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:91127600-91128800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:91128000-91128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:91128000-91128600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:91128000-91128600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:91128200-91128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:91128200-91129000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:91128200-91129800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:91128400-91128600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:91128400-91130400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:91128600-91130800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:91128600-91130800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:91128600-91130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:91128800-91130400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:91128800-91130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:91129000-91129400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:91129400-91129600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:91129600-91130400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:91129800-91130200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:91130200-91130600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:91130400-91131200	Enhancers	HUES64 Cell Line	embryonic stem cell

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